Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance

被引：5
作者：
Lauteala, T
HorelliKuitunen, N
Closs, E
Savontaus, ML
Lukkarinen, M
Simell, O
Cunningham, J
Palotie, A
Aula, P
机构：
[1] UNIV TURKU,DEPT PEDIAT,SF-20520 TURKU,FINLAND
[2] UNIV HELSINKI,CENT HOSP,GENET MOL LAB,HELSINKI,FINLAND
[3] UNIV MAINZ,DEPT PHARMACOL,D-6500 MAINZ,GERMANY
[4] HOWARD HUGHES MED INST,BOSTON,MA
[5] BRIGHAM & WOMENS HOSP,DIV HEMATOL,BOSTON,MA 02115
[6] HARVARD UNIV,SCH MED,BOSTON,MA
来源：
HUMAN GENETICS | 1997年 / 100卷 / 01期
关键词：
D O I：
10.1007/s004390050469
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Lysinuric protein intolerance (LPI) is a recessively inherited amino acid disorder characterized by defective efflux of cationic amino acids at the basolateral membrane of the intestinal and renal tubular epithelium. Recently, cDNAs encoding the related proteins hCAT-2A and hCAT-2B have been cloned. These two carrier proteins are most likely the product of the same gene, hCAT-2. Using the hCAT-2B cDNA, we assigned the hCAT-2 to chromosome 8p22. Furthermore, by linkage analysis in Finnish LPI families, we ruled out that hCAT-2B is involved in LPI disease.
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页码：80 / 83
页数：4
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